A curated catalogue of human genomic structural variation




Variant Details

Variant: esv3415452



Internal ID15262411
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr20:63060955..63062353hg38UCSC Ensembl
Innerchr20:63061353..63061955hg38UCSC Ensembl
Outerchr20:63059955..63063353hg38UCSC Ensembl
chr20:61692307..61693705hg19UCSC Ensembl
Innerchr20:61692705..61693307hg19UCSC Ensembl
Outerchr20:61691307..61694705hg19UCSC Ensembl
chr20:61162752..61164150hg18UCSC Ensembl
Innerchr20:61163752..61163150hg18UCSC Ensembl
Outerchr20:61161752..61165150hg18UCSC Ensembl
Cytoband20q13.33
Allele length
AssemblyAllele length
hg381399
hg191399
hg181399
Variant TypeCNV duplication
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variants
Supporting Variantsessv8692610
SamplesNA19240
Known GenesLOC63930
MethodSequencing
Analysis
PlatformIllumina
Comments
Reference1000_Genomes_Consortium_Pilot_Project
Pubmed ID20981092
Accession Number(s)esv3415452
Frequency
Sample Size185
Observed Gain1
Observed Loss0
Observed Complex0
Frequencyn/a


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